On 25 September 2018, we held another successful annual conference – our largest ever – with over 170 attendees, including representatives from member organisations, patients and carers, researchers, clinicians and industry partners, in a day full of stimulating discussion and constructive workshops.
Recordings of the day’s talks can be found on our Soundcloud page.
The day began with a word from our Chief Executive Dr. Jayne Spink, welcoming everyone to the conference, and highlighting the use of Facebook live and Sli.do to connect with people that could not make it on the day.
We then welcomed our first keynote speakers Professor Dame Sue Hill (Chief Scientific Officer for England) and Professor Jill Clayton-Smith (Consultant Clinical Geneticist, leader of the EU network for Rare Congenital Malformations and Intellectual Disability).
Professor Dame Sue Hill introduced the new NHS Genomic Medicine Service and talked in depth on the transition from the 100,000 Genomes Project to the new service. She stressed the benefits gained by the 100,000 Genomes Project – such as one in four rare disease patients receiving a diagnosis that they wouldn’t have otherwise – and described it as a ‘pivotal project’ which leant steadfastly on patient voice. She went on to describe how the new NHS Genomic Medicine Service will have to learn from the 100,000 Genome Project, with system level coordination responsive to new innovation, and the introduction of a new patient choice model. Slides for this talk can be found here.
‘This field will rapidly evolve. It’s bringing everything together to treat patients and get the maximum possible effect.’
Professor Jill Clayton-Smith then took the stage to give a talk on the changing face of rare disease diagnosis, in particular noting the positive impact large scale genomic testing will have on patients. This was tempered, however, by an acknowledgement that the move towards more routine genomic testing will require upskilling of many clinicians and the education of the mainstream workforce, and that they are still learning a lot about new genetic diseases from patients. She emphasised that making this work multidisciplinary, and working with patients, will be ‘key to deriving the most benefit from genomic testing’. The slides for this talk can be found here
After an engaging Q&A session with Profs. Hill and Clayton-Smith, we moved on to an update of the outcomes and recommendations from our latest research piece ‘Living with a rare condition: the effect on mental health’, presented by Dr Amy Hunter and Rosa Spencer-Tansley, from our research team. Slides for this talk can be found here
The findings generally pointed towards a ‘huge unmet need for mental health support’ for patients affected by rare diseases. The research team were told consistently that poor awareness of the condition amongst healthcare professionals and (for carers) the burden of worrying about their child’s, or person who they care for’s, was negatively impacting patients’ and carers’ quality of life and emotional wellbeing.
The recommendations, then, for empowering rare disease healthcare professionals fell under three key findings; around half of patients and carers are not asked about mental health; well handled interactions are a source of relief; and support such as charities are highly valued. The full report, with survey results, patient quotes, and recommendations, can be found here.
The story here was not an unfamiliar one to many patients, carers and patient organisations in the room and the results delivered were echoed in many of the questions and comments posed from the floor after the talk. This research gives strength and evidence to what many in the rare disease community have known for years, and provides a platform from which to further campaign for treatment of rare disease patients’ mental health alongside physical health.
‘When you’re living with a chronic condition your need for mental health support can be long lasting, so access to support when you need it is important.’
After a short coffee break, and the chance for some networking, we returned to the auditorium to hear from a few of Genetic Alliance UK’s member organisations, on the challenges and opportunities they face in the sector.
Clare Dickson, Monitoring and Evaluation Officer at ALD Life, began by speaking on the use of monitoring and evaluation as a small charity and the ways it helps to improve and expand services offered. ALD Life has found monitoring and evaluation to be crucial in showing the difference they are making, which in turn encourages others to reach out to them for support. Slides for this talk can be found here.
This was followed by Jan Fowler, Chair of SOFT UK, speaking on designing and delivering training for healthcare professionals. Her talk centred around SOFT UK’s work with the NHS to integrate parent experience into NHS training programmes. This has culminated in the development of videos of parent stories and other e-learning tools, with the aim of adapting the way healthcare professionals work with families, while keeping in mind the possible impact on the parents sharing their stories.
Finally, we had Dr Aisling McMahon, Head of Clinical Trials Accelerator Platform at Cystic Fibrosis Trust, speaking on increasing access to clinical trials. Traditionally, she explained, the UK has been a bleak landscape for cystic fibrosis (CF) clinical trials, with a lack of resources and infrastructure encouraging low participation rates. This prompted Cystic Fibrosis Trust to launch their Clinical Trials Accelerator Platform in 2017, to enable centres to run more clinical trials, widen the reach of CF research and empower patients to participate in trials. Her talk spoke of the successes of the Platform, with 70% of CF patients having now discussed a trial with their clinician, but also its shortcomings, with 68% of patients not having received feedback from a trial. Slides for this talk can be found here.
Following these talks, we broke for lunch and then our Annual General Meeting (AGM). It was an eventful AGM, bidding farewell to our current Chair Christopher Goard and re-electing Rafael Yanez as a Trustee, to be elected by the Trustees as Chair at the next Board meeting. There was also a Special Resolution passed, involving a change in focus of the work of Genetic Alliance UK towards the formal inclusion of genetic, and/or rare and/or undiagnosed conditions. This will broaden the range of organisations that are eligible for membership, and better reflects the work we do as a whole.
Building a strong case for support
Emma Damian-Grant, Director of Fundraising and Support, Genetic Alliance UK
David Peake, Trust Fundraising Officer, Genetic Alliance UK
Emma and David of Genetic Alliance UK lead participants through the best processes for accessing support as a patient organisation, and how to make the most of available funding opportunities. They emphasised the importance of measuring your organisation’s reach and impact, and how to use this to your advantage in trust and foundation applications, as well as how exactly to find the trust and foundation that best fits your organisation. Slides for this workshop can be found here
Do you need a patient registry?
Mary Bythell, Head of Rare Disease Registration, Public Health England
Jeanette Aston, Rare Disease Data Liaison, Public Health England
Rebecca Cosgriff, Registry Lead, Cystic Fibrosis Trust
Angela Stringer, Duchenne Muscular Dystrophy Registry Curator, Action Duchenne
Representatives from Public Health England began by giving an update on current work and future plans of the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS), and how organisations can work with them. Representatives from our member organisations Cystic Fibrosis Trust and Action Duchenne took participants through their experiences of setting up and managing rare disease registries. The workshop concluded with an open discussion with the panel on patient registries and feedback to the Public Health England team on NCARDRS. Slides for this workshop can be found here
Producing patient leaflets and information
Dr Claire Andersen, Information Officer, Unique
Ciaran Scott, Clinical Trials Officer, AKU Society
Nick Sireau, Chairman of Trustees, AKU Society
In this workshop representatives from our members Unique and AKU Society spoke on best practice in the production and distribution of patient information leaflets. This included identifying where there is the need for a patient leaflet, how to begin the process and then an exercise in making a mock leaflet, under instruction and supervision of the practised leaflet-makers from Unique and AKU Society. Slides for this workshop can be found here
Managing online communities
Lauren Roberts, Director of Support Genetic Alliance UK
Miriam Ingram, Digital Communications and Support Officer, SWAN UK
Many rare disease communities have a central online hub for their members to gather, whether it be a Facebook group, Twitter feed or online forum. Lauren and Miriam manage our SWAN UK Facebook groups and are well versed in how to maintain it as a safe, comfortable environment for all its members. They guided participants through the process of setting community guidelines, resolving conflict and dealing with bullying. Slides for this workshop can be found here
Working with media
Vivienne Parry, OBE, Head of Public Engagement at Genomics England
Vivienne Parry describes herself as “A scientist by training and an enthusiast to her bones”, and in addition to being head of Public Engagement at Genomics England, she is a prolific writer and broadcaster, presenting BBC’s Tomorrow’s World and appearing regularly on Radio 4. Her workshop gave an instructive insight into how the press and media work, and how patient organisations can best work with them.Slides for this workshop can be found here
To wrap up the day, we all returned to the auditorium for a panel session with the Genetic Alliance UK management team, to answer questions that had been submitted by members in advance, and to allow attendees to ask any other questions. This session also enabled, through the use of the online Sli.do platform, the panel to gauge the audience’s feelings on certain topics of discussion, which made for an engaging discussion between panel and audience.
Key focusses here were the likely effects of Brexit on genetic and rare disease patients and organisations, the use of newborn screening in rare disease communities, and the future of rare disease research funding.
And that about does it! Thank you to all who were able to attend, we hope you enjoyed the day as much as we did. 95% of attendees told us they would return next year – so we will see you then!